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COMBINEDBrain

@combined_brain

Consortium for Biomarkers and Outcome Measures for Neurodevelopmental Disorders https://nitter.cf/t.co/4odslIFF84

 Nashville, TN
combinedbrain.org
Joined August 2019
  • Tweets1.4K
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  • Followers846
83Media
Photo by COMBINEDBrain (@combined_brain)Photo by COMBINEDBrain (@combined_brain)Photo by COMBINEDBrain (@combined_brain)Photo by COMBINEDBrain (@combined_brain)Photo by COMBINEDBrain (@combined_brain)Photo by COMBINEDBrain (@combined_brain)
You'll know by now that we've officially launched #60SecondsofRARE. To get involved, email rpender@rarerevolutionmagazine, and you'll receive four questions, including video guidelines Then, film yourself answering the four questions, and that's it!
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#ShineYourSearchlight✨ Do you live in the USA? Make sure your genetic variant is part of the @SimonsSearchlight biorepository! Your blood sample can help in creating future therapies and treatments. Contact [email protected] to learn more. #OCNDS #CSNK2A1
Image from CSNK2A1 Foundation (@csnk2a1org)
Image from CSNK2A1 Foundation (@csnk2a1org)
Image from CSNK2A1 Foundation (@csnk2a1org)
Image from CSNK2A1 Foundation (@csnk2a1org)
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COMBINEDBrain retweeted
Global Genes (@GlobalGenes) profile picture
Global Genes@GlobalGenes6 Apr 2023
Want to learn how to get involved on a state level? Join @EveryLifeOrg for their Apr. 12 webinar on Building Relationships with State Decision Makers. Learn best practices and hear directly from advocates who are taking action in their states. go.globalgenes.org/everylife…
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NORD's #LivingRareForum is just one month away on Saturday, May 6, 2023! Join hundreds of patients, families, & #RareDisease community members in Washington, DC for a day full of education, inspiration, & celebration of NORD's 40th anniversary. Register: bit.ly/3Lu3oOZ
Background of watercolor Capitol building in Washington, DC. Text reading, "1 Month Away" and "NORD's Living Rare, Living Stronger Patient and Family Forum May 6, 2023 Washington, DC." NORD and 40th anniversary logo below.

ALT Background of watercolor Capitol building in Washington, DC. Text reading, "1 Month Away" and "NORD's Living Rare, Living Stronger Patient and Family Forum May 6, 2023 Washington, DC." NORD and 40th anniversary logo below.

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COMBINEDBrain retweeted
FAST (@cureangelman) profile picture
FAST@cureangelman6 Apr 2023
There are four active clinical trials for Angelman syndrome! New site locations have recently been added to the ongoing studies, and additionally, a new observational study was just announced. 🔬 Check out more info about these clinical trials: buff.ly/3nCm8VB
There are four active Angelman syndrome clinical trials! With the Clinicaltrials.gov logo

ALT There are four active Angelman syndrome clinical trials! With the Clinicaltrials.gov logo

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ASXL1 Awareness Day is a big day for a little populations-- so far, just about 150-200 individuals are identified as having ASXL1, or Bohring-Opitz Syndrome. It's one of a trio: ASXL1, ASXL2 and ASXL3. 1/
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youtube.com/watch?v=7ntCz0Gu…
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Great news, & great exposure for Angelman.
FAST (@cureangelman) profile pictureFAST@cureangelman5 Apr 2023
📰 A new article in the Wall Street Journal profiles FAST and its innovative approach to make cutting-edge clinical treatments available to everyone who needs them. Read the article here: buff.ly/3KAwi2d
The Wall Street Journal: These Drugs Are So Futuristic That Doctors Need New Training. Next-generation treatments on the way for once-incurable diseases can be complicated to test and administer; ‘if we can’t get it to these patients, the science is lost’, with Dr. Berry-Kravis administering a therapeutic to a patient

ALT The Wall Street Journal: These Drugs Are So Futuristic That Doctors Need New Training. Next-generation treatments on the way for once-incurable diseases can be complicated to test and administer; ‘if we can’t get it to these patients, the science is lost’, with Dr. Berry-Kravis administering a therapeutic to a patient

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National Human Genome Research Institute (@genome_gov) profile pictureNational Human Genome Research Institute@genome_gov4 Apr 2023
NHGRI’s Clinical Director @BenjaminSolomo2 first fell in love with genetics and genomics in the 7th grade. In medical school, he admired geneticists who were determined to help diagnose patients.
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COMBINEDBrain retweeted
FAST (@cureangelman) profile picture
FAST@cureangelman5 Apr 2023
🏛️ This work falls within FAST’s Pillar 4 - Accelerating and Preparing for Clinical Trials in our Roadmap to a Cure 2.0, and is particularly exciting for our community right now, given the multiple ongoing and emerging clinical trials.
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COMBINEDBrain retweeted
FAST (@cureangelman) profile picture
FAST@cureangelman5 Apr 2023
A new publication from Dr. Anne Anderson’s lab at Baylor College of Medicine evaluates EEG as a tool, or biomarker, to objectively measure therapeutic efficacy in Angelman syndrome. Read more about the publication's findings: buff.ly/3KaM6r6
New publication from Dr. Anne Anderson’s lab at Baylor College of Medicine evaluates EEG as a biomarker for AS, with the Baylor College of Medicine logo

ALT New publication from Dr. Anne Anderson’s lab at Baylor College of Medicine evaluates EEG as a biomarker for AS, with the Baylor College of Medicine logo

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Bohring-Opitz Syndrom is one of three ASXL conditions: ASXL1 ASXL2 and ASXL3 The features and abilities of people with Bohring-Opitz Syndrome varies greatly. We do not yet know why there is broad variation in features and abilities. 1/
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Watch here to learn more about ASXL1 on Today is Bohring-Opitz Awareness Day. Watch here to learn more youtu.be/7ntCz0GuYXk
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About 150-200 people diagnosed with Bohring-Opitz & it is classified as "ultra rare."
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youtu.be/zQjNsXg7FwYICYMI, replay this webinar on our biobank & partnership with Syngap Research fund for SYNGAP1. Biorepositories--banks of samples--are a powerful tool for medical research.
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The biorepository is going on a roadshow--more details to come.
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Information on the albuterol shortage, for patients whose disease burden includes asthma. lung.org/blog/albuterol-shor…
How the Albuterol Shortage Will Impact Your Chronic Lung Disease

How the Albuterol Shortage Will Impact Your Chronic Lung Disease

This medicine is a common respiratory quick-relief (rescue) treatment available for multiple chronic lung diseases.

lung.org
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COMBINEDBrain retweeted
stxbp1 (@curestxbp1) profile picture
stxbp1@curestxbp12 Apr 2023
The *first* global #census for #STXBP1 is published! 903 patients from 45 countries! We know there are more STX'ers out there. Check out the news article and be counted! stxbp1disorders.org/news/stx… #STXBP1GlobalConnect @stxbp1
Image from stxbp1 (@curestxbp1)
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Here is the link for #TopDownloadedArticle for ASXL3-related disorder and largest natural history on this common disorder to date. Further work on an even bigger cohort and more follow up data ongoing! onlinelibrary.wiley.com/doi/… @ShefUni_OncMet @SheffChildrens @arrefoundation
Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished...

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished...

The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collab...

onlinelibrary.wiley.com
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